NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) AND Paramyotonia congenita of Von Eulenburg
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000402814.8
Allele description [Variation Report for NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)]
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)
Condition(s)
- Name:
- Paramyotonia congenita of Von Eulenburg
- Synonyms:
- Paramyotonia congenita; Paralysis periodica paramyotonica; Eulenburg disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300
Assertion and evidence details
Last Updated: Sep 29, 2024